Leber Congenital Amaurosis 5
Disease ID: disease_node_19107
Connections displayed (default: 10).
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| Dbxref | ICD10CM:H35.5, MIM:604537 |
|---|---|
| Subclassof | DOID_0050737, DOID_14791 |
| Data Source | DOID |
| Synonyms | LCA5 |
| Doid Label | Leber congenital amaurosis 5 |
| Doid Description | A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19107 |
| Doid Id | DOID_0110215 |
| Disease Has Basis In | HP_0001197 |
| Label | Leber Congenital Amaurosis 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Leber Congenital Amaurosis(ID:disease_node_12393) (Disease)